145 results on '"De Brasi, D"'
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2. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
3. CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
4. Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry
5. Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease–gene association
6. Endocrine system involvement in patients with RASopathies: A case series
7. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
8. The complexity of diagnosing a drug reaction syndrome in the child|La complessità della diagnosi di una sindrome da reazione a farmaco nel bambino
9. Additional file 1 of Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
10. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
11. Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)
12. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
13. Mowat–Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature
14. Short stature and azoospermia in a patient with Y chromosome long arm deletion
15. Holt–Oram syndrome associated with anomalies of the feet
16. Use of narrative medicine to identify key factors for effective doctor–patient relationships in severe asthma
17. Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene
18. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4
19. Cloverleaf skull anomaly and de novo trisomy 4p
20. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
21. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
22. P044 Visceral Leshmaniasis and liver disease: the experience of the Campania Reference Centre for Visceral Leshmaniasis at pediatric age
23. Adherence to guidelines for management of children hospitalized for acute diarrhea
24. Classical phenotype of trisomy 1q42-qter syndrome in a patient with an inv dup del (1)(pter [right arrow] q44::q44 [right arrow] q42:)
25. Untersuchungen zur handschriftlichen Überlieferung von Platons Menon. (Palingenesia. 97.) Bruno Vancamp
26. Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly
27. Severe respiratory impairment in a patient affected by spondyloepiphyseal dysplasia congenital
28. New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?
29. Seckel phenotype and partial GH deficiency in a patient with Wolf-Hirschhorn syndrome
30. Idrocefalo tetraventricolare acquisito in paziente affetta da sindrome di Smith-Lemli-Opitz
31. Analisi di 7- e 8-deidrocolesterolo mediante GC-MS-SIM su sangue intero da cartoncino per lo screening della Sindrome di Smith-Lemli-Opitz
32. Smith-Lemli-Opitz syndrome evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutation
33. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of D7-sterol reductase in Italy and report of three novel mutations
34. Axial arthropathy in acromegaly: A clinical and radiological study on the spine
35. CARDIOMIOPATIA IN CORSO DI PROPIONICOACIDEMIA: RUOLO DELLA TERAPIA CON CARNITINA
36. CARNITINE DEFICIENCY IN A PATIENT WITH PROPIONIC ACIDAEMIA AND CARDIOMYOPATHY
37. Acute liver toxicity course in children with spinal muscular atrophy treated with gene therapy: a single center experience.
38. Eight isolated cases of KBG syndrome: a new hypothesis of study
39. Sindrome di Holt-Oram: descrizione di 6 casi in 2 nuove famiglie
40. When Wisdom Calls: Philosophical Protreptic in Antiquity ed. by O. Alieva, A. Kotzé, S. Van der Meeren (review)
41. Reversibility of joint thickening in acromegalic patients: an ultrasonographic study
42. Mild Wolf-Hirschhorn phenotype and partial gh deficiency in a patient with a 4p terminal deletion
43. Iron overload features in two infants with Zelleweger syndrome with liver disease.
44. Inv dup del (1)(pter?q44::q44?q42:) with the classical phenotype of trisomy 1q42-qter
45. Case of Myhre syndrome with autism and peculiar skin histological findings
46. Mental Retardation, Tall Stature and Minor Phenotypic Abnormalities Associated with a de novo Complex Chromosome Rearrangement
47. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations.
48. Letter to the Editor Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
49. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
50. Endocrine system involvement in patients with RASopathies: A case series
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